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Öğe Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty(NLM (Medline), 2021) Helvacıoğlu, Didem; Demircioğlu Turan, Serap; Güran, Tülay; Atay, Zeynep; Dağçınar, Adnan; Bezen, Diğdem; Karakılıç Özturan, Esin; Darendeliler, Feyza; Yüksel, Ayşegül; Dursun, Fatma; Kılınç, Suna; Semiz, Serap; Abalı, Saygın; Yıldız, Metin; Önder, Aşan; Bereket, AbdullahCONTEXT: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. OBJECTIVE: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of girls with CPP. METHODS: A multicenter cohort of 770 Turkish girls with CPP who had systematic cranial MRI between 2005 and 2017. Age at puberty onset was <6 years in 116 and 6-8 years in 654. CNS lesions were followed until final decision(6.2 ± 3.1 years). Potential predictors of CNS lesions were evaluated by univariate analyses. RESULTS: A total of 104/770 (13.5%) girls had abnormal brain MRI. Of these, 2.8% were previously known CNS lesions, 3.8% had newly detected and causally related CNS lesions, 3.1 % were possibly, related and 3.8% were incidental. Only 2 (0.25%) neoplastic lesions (1 low grade glioma and 1 meningioma) were identified; neither required intervention over follow-up of 6 and 3.5 years respectively. Age at breast development <6 years (odds ratio [OR] 2.38; 95% CI 1.08-5.21) and the peak luteinizing hormone/follicle-stimulating hormone (LH/FSH) ratio >0.6 (OR 3.13; 95% CI 1.02-9.68) were significantly associated with CNS lesions. However, both patients with neoplastic lesions were >6 years old. CONCLUSION: Although age and LH/FSH ratio are significant predictors of CNS lesions, their predictive power is weak. Thus, systematic MRI seems to be the most efficient current approach to avoid missing an occult CNS lesion in girls with CPP, despite the low likelihood of finding a lesion requiring intervention.Öğe Development of the most comprehensive genetic test based on next generation sequencing for diagnosis of congenital hypothyroidism(Nature Publishing Group, 2018) Cangül, Hakan; Özel, Mavi Deniz; Genç, Nimetullah Mete; Kardelen Al, Aslı Derya; Darendeliler, Feyza[Abstract Not Available]Öğe Incidence of type 1 diabetes in children aged below 18 years during 2013-2015 in northwest Turkey(Galenos Yayıncılık, 2018) Poyrazoğlu, Şükran; Bundak, Rüveyde; Yavaş Abalı, Zehra; Önal, Hasan; Sarıkaya, Sevil; Akgün, Abdurrahman; Baş, Serpil; Abalı, Saygın; Bereket, Abdullah; Eren, Erdal; Tarım, Ömer; Güven, Ayla; Yıldız, Metin; Karaman Aksakal, Derya; Yüksel, Ayşegül; Seymen Karabulut, Gülcan; Hatun, Şükrü; Özgen, Tolga; Cesur, Yaşar; Azizoğlu, Mehmet; Dilek, Emine; Tütüncüler, Filiz; Çakır, Esra Papatya; Özcabı, Bahar; Evliyaoğlu, Olcay; Karadeniz, Songül; Dursun, Fatma; Bolu, Semih; Arslanoğlu, İlknur; Yeşiltepe Mutlu, Gül; Kırmızıbekmez, Heves; İşgüven, Pınar; Üstyol, Ala; Adal, Erdal; Uçar, Ahmet; Cebeci, Nurcan; Bezen, Didem; Binay, Çiğdem; Semiz, Serap; Korkmaz, Hüseyin Anıl; Memioğlu, Nihal; Sağsak, Elif; Peltek, Havva Nur; Yıldız, Melek; Akçay, Teoman; Turan, Serap; Güran, Tülay; Atay, Zeynep; Akcan, Neşe; Çizmecioğlu, Filiz; Ercan, Oya; Dağdeviren, Aydilek; Baş, Firdevs; İşsever, Halim; Darendeliler, FeyzaObjective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%) were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.Öğe Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty(Walter de Gruyter Gmbh, 2018) Çetinkaya, Semra; Poyrazoğlu, Şükran; Baş, Firdevs; Ercan, Oya; Yıldız, Metin; Adal, Erdal; Bereket, Abdullah; Abalı, Saygın; Aycan, Zehra; Erdeve, Senay Savaş; Berberoğlu, Merih; Şıklar, Zeynep; Tayfun, Meltem; Darcan, Şükran; Mengen, Eda; Bircan, İffet; Jones, Filiz Mine Çizmecioğlu; Şimşek, Enver; Papatya, Esra Deniz; Özbek, Mehmet Nuri; Bolu, Semih; Abacı, Ayhan; Büyükinan, Muammer; Darendeliler, FeyzaBackground: The aim of the study was to assess the response to growth hormone (GH) treatment in very young patients with GH deficiency (GHD) through a national, multi-center study. Possible factors affecting growth response were assessed (especially mini-puberty). Methods: Medical reports of GHD patients in whom treatment was initiated between 0 and 3 years of age were retrospectively evaluated. Results: The cohort numbered 67. The diagnosis age was 12.4 +/- 8.6 months, peak GH stimulation test response (at diagnosis) as 1.0 +/- 1.4 ng/mL. The first and second years length gain was 15.0 +/- 4.3 and 10.4 +/- 3.4 cm. Weight gain had the largest effect on first year growth response; whereas weight gain and GH dose were both important factors affecting second year growth response. In the multiple pituitary hormone deficiency (MPHD) group (n = 50), first year GH response was significantly greater than in the isolated GH deficiency (IGHD) group (n = 17) (p = 0.030). In addition first year growth response of infants starting GH between 0 and 12 months of age (n = 24) was significantly greater than those who started treatment between 12 and 36 months of age (n = 43) (p <0.001). These differences were not seen in the second year. Delta Length/height standard deviation score (SDS), Delta body weight SDS, length/height SDS, weight SDS in MPHD without hypogonadism for the first year of the GH treatment were found as significantly better than MPHD with hypogonadism. Conclusions: Early onsets of GH treatment, good weight gain in the first year of the treatment and good weight gain-GH dose in the second year of the treatment are the factors that have the greatest effect on length gain in early onset GHD. The presence of the sex steroid hormones during minipubertal period influence growth pattern positively under GH treatment (closer to the normal percentage according to age and gender).Öğe The investigation of genetic etiology in familial cases with congenital hypothyroidism(Karger, 2019) Kardelen Al, Aslı Derya; Işık, Fatma Büşra; Karakılıç Özturan, Esin; Sözügüzel, Mavi Deniz; Öztürk, Ayşe Pınar; Poyrazoğlu, Şükran; Parlayan, Cüneyd; Cangül, Hakan; Baş, Firdevs; Darendeliler, FeyzaBackground: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH. Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted of medical history, physical examination, clinical findings, thyroid hormone levels and etiological tests. Gene panel consisting of 19 genes(PAX8,NKX2-1,NKX2-5,FOXE1,TSHR,SLC5A5,SLC26A4,TG,TPO,DUOX2, DUOXA2,IYD,SLC26A7,DUOX1-ZNF607,SLC6A4,GLIS3,TSHB,THRA) that may cause CH was performed. Pathogenicity of the novel nonsynonymous mutations were analysed via in silico prediction programs. Results: Sixteen families had consanguineous marriages and 12 families had a history of hypothyroidism. Twenty patients were diagnosed with neonatal screening programme and 2 patients with hyperbilirubinemia, 5 patients were diagnosed during hospitalization in neonatal intensive care unit and 22 patients were diagnosed during the routine control. The mean age at presentation (mean±SD) was 1.3±2.1 years (median:0.2;range0.03-8.8). The mean TSH level at presentation was 152.3±207.9mIU/ml (median:51.8;range4.2-820), and the level of fT4 was 8.8±5.9 pmol/L(median:9.4;range0.04-19.7). All patients underwent ultrasonography and one patient had thyroid agenesis. Scintigraphy was performed to 23 patients and thyroid agenesis and thyroid hyperplasia were detected in two patients. Perchlorate discharge test was performed on 21 patients and two of them could not be evaluated due to errors in processing. Four patients had normal results, 9 patients had partial dyshormogenesis and 6 patients had complete dyshormogenesis. Genetic analysis revealed that four families with consanguineous marriages (4/24,16.7%) had mutations in 3 different genes. Two families were followed because of complete dyshormogenesis and two families were followed because of partial dyshormogenesis. Family I had a homozygous c.1349G>A(p.R450H) mutation in the TSHR gene. Second family had a homozygous c.1477G>A(p.G493S) mutation in the TPO gene. Third family had a homozygous missense p.R540X mutation in the TPO gene. Family IV had a homozygous novel c.280G>A(p.G94R) mutation in the SLC26A7 gene. Conclusion: In our study, the overall mutation rate was 16.7%. Genetic etiologies may differ in patients with dyshormonogenesis. A novel mutation was shown in the SLC26A7 gene in a family with partial dyshormogenesis. Genetic analysis can be used to clarify the etiology, to be informed about prognosis and to provide genetic counseling especially in familial cases. It has been suggested that a greater number of related genes should be screened for the recognition of genetic causes that may cause of CH.
